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Article

A novel MFRP gene variant in a family with posterior microphthalmos, retinitis pigmentosa, foveoschisis, and foveal hypoplasia.

Ophthalmic genetics - 1 Oct 2020

Godinho Gonçalo, Madeira Carolina, Grangeia Ana, Neves-Cardoso Pedro, Santos-Silva Renato, Brandão Elisete, Carneiro Ângela, Falcão-Reis Fernando, Estrela-Silva Sérgio

Abstract excerpt

BACKGROUND: To characterize the phenotype and genotype of a syndrome associating posterior microphthalmos (PM), retinitis pigmentosa (RP), foveoschisis, and foveal hypoplasia (FH) in a consanguineous Portuguese family. MATERIALS AND METHODS: Three siblings were studied and underwent comprehensive eye examinations for best-corrected visual acuity, axial length, refractive error, B-mode ultrasound,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 32703043
DOI: 10.1080/13816810.2020.1795888

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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